ClinVar Miner

List of variants reported as pathogenic for Polycystic liver disease 2

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_007214.5(SEC63):c.173G>A (p.Trp58Ter) rs119103233 0.00001
NM_007214.5(SEC63):c.292C>T (p.Arg98Ter) rs768568123 0.00001
NM_007214.5(SEC63):c.1023C>A (p.Cys341Ter) rs2114446923
NM_007214.5(SEC63):c.1094dup (p.Asn365fs)
NM_007214.5(SEC63):c.1697AAG[2] (p.Glu568del) rs752018806
NM_007214.5(SEC63):c.442_443insA (p.Ala148fs) rs886041027
NM_007214.5(SEC63):c.514+1G>A rs1554236269
NM_007214.5(SEC63):c.715C>T (p.Arg239Ter) rs755795110
NM_007214.5(SEC63):c.733+1G>A rs886041028

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